The ACTB gene homepage

General information
Gene symbol ACTB
Gene name actin, beta
Chromosome 7
Chromosomal band p22
Imprinted Unknown
Genomic reference LRG_132
Transcript reference NM_001101.3
Exon/intron information NM_001101.3 exon/intron table
Associated with diseases BRWS, BRWS1, DJO, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 104
Unique public DNA variants reported 72
Individuals with public variants 48
Hidden variants 5
Date created September 13, 2012
Date last updated April 07, 2021
Version ACTB:210407

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001101.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 132
Entrez Gene 60
PubMed articles ACTB
OMIM - Gene 102630
OMIM - Diseases BRWS1 (syndrome, Baraitser-Winter, type 1 (BRWS1))
DJO (dystonia, juvenile-onset (DJO))
GeneCards ACTB
GeneTests ACTB
Orphanet ACTB

Active transcripts




NCBI ID     

NCBI Protein ID     

00000720 7 actin, beta NM_001101.3 NP_001092.1 104

Copyright & disclaimer
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